Canonical Allele Identifier: CA373510451
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1821284390
gnomAD v3: 9-38396326-G-C
gnomAD v4: 9-38396326-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396326G>C , CM000671.2:g.38396326G>C GRCh38
NC_000009.11:g.38396323G>C , CM000671.1:g.38396323G>C GRCh37
NC_000009.10:g.38386323G>C NCBI36
NG_012253.1:g.8622G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.578G>C MANE Select ENSP00000366927.3:p.Gly193Ala
ENST00000377698.3:c.578G>C ENSP00000366927.3:p.Gly193Ala
NM_000692.4:c.578G>C NP_000683.3:p.Gly193Ala
XM_011517802.1:c.578G>C XP_011516104.1:p.Gly193Ala
XM_011517802.2:c.578G>C XP_011516104.1:p.Gly193Ala
NM_000692.5:c.578G>C MANE Select NP_000683.3:p.Gly193Ala